نتایج جستجو برای: neurocutaneous syndrome
تعداد نتایج: 622208 فیلتر نتایج به سال:
We report unilateral megalencephaly in a 14-year-old girl with linear sebaceous nevus syndrome. A review of the radiologic findings in this case and in previously reported cases suggests that the seizures and developmental delay in this neurocutaneous syndrome are related to the migration anomaly of unilateral megalencephaly.
Sjögren-Larsson syndrome is an inherited neurocutaneous disorder characterized by ichthyosis, intellectual disability, and spastic diplegia or tetraplegia. Patients have deficient activity of fatty aldehyde dehydrogenase due to mutations in the ALDH3A2 gene, which results in altered lipid composition of their tissues. In this article, the author discusses new information about the biochemical p...
The discovery of either a dermatomal cutaneous nevus or a spinal arteriovenous malformation (AVM) should raise the suspicion of Cobb syndrome. The Cobb syndrome is a neurocutaneous syndrome in which there are metameric cutaneous and spinal AVMs. The authors present the case of a patient with acute cervical myelopathy and subtle cutaneous hemangiomas in whom a cervical perimedullary fistula was ...
Background: Sturge-Weber syndrome is one of the rare neurocutaneous disorders with frequency of approximately 1 per 50,000. Sturge-Weber syndrome consists of a constellation of symptoms and signs including a facial nevus (port wine stain), seizure and hemiparesis. In many cases it may associate with mental retardation. Case presentation: A 7- year old girl with mental retardation and a large fa...
Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95). This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if int...
We present a patient with neurocutaneous syndrome, status prior resections for cervical schwannomas and median as well as radial nerve schwannomas. This is a 57-year-old female with neurocutaneous syndrome presenting at 42 years of age with unilateral vestibular schwannoma. Genetic testing was negative but on clinical criteria neurofibromatosis-2 (NF-2) or schwannomatosis were considered.1 She ...
Neurocutaneous syndromes represent a vast, largely heterogeneous group of disorders characterized by neurological and dermatological manifestations, reflecting the common embryonic origin of epidermal and neural tissues. In the present report, we describe a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK syndrome). Using homozy...
Nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin Syndrome, is a neurocutaneous disorder caused by mutations in the PTCH1 or, less commonly, SUFU genes. Mutations these genes lead to malfunction of sonic hedgehog pathway, causing unregulated proliferation and differentiation. As pathway affects hair follicle growth development, could proliferation. We present case patient whose discrete t...
Incontinentia pigmenti (IP) is an uncommon neurocutaneous syndrome. Its initial diagnosis is based primarily on characteristic papulovesicular skin lesions and early-onset neonatal seizures. In contrast to typical early neurologic manifestations, we encountered a normally developed 6-month-old female patient with hyperpigmented whorls on her body. Following respiratory syncytial virus infection...
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